Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y
Cossel, Katharina, Muschol, Nicole, Friedrich, Reinhard E., Glatzel, Markus, Ammer, Luise, Lohmöller, Benjamin, Bendszus, Martin, Mautner, Victor‐Felix, Godel, Tim
Published in Muscle & nerve (01.05.2021)
Published in Muscle & nerve (01.05.2021)
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Journal Article
Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA -Variant p.A143T
Godel, Tim, V Cossel, Katharina, Friedrich, Reinhard E, Glatzel, Markus, Canaan-Kühl, Sima, Duning, Thomas, Kronlage, Moritz, Heiland, Sabine, Bendszus, Martin, Muschol, Nicole, Mautner, Victor-Felix
Published in Diagnostics (Basel) (30.11.2020)
Published in Diagnostics (Basel) (30.11.2020)
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Journal Article
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun, Fabian, Abed, Ahmed, Sellung, Dominik, Rogg, Manuel, Woidy, Mathias, Eikrem, Oysten, Wanner, Nicola, Gambardella, Jessica, Laufer, Sandra D, Haas, Fabian, Wong, Milagros N, Dumoulin, Bernhard, Rischke, Paula, Mühlig, Anne, Sachs, Wiebke, von Cossel, Katharina, Schulz, Kristina, Muschol, Nicole, Gersting, Sören W, Muntau, Ania C, Kretz, Oliver, Hahn, Oliver, Rinschen, Markus M, Mauer, Michael, Bork, Tillmann, Grahammer, Florian, Liang, Wei, Eierhoff, Thorsten, Römer, Winfried, Hansen, Arne, Meyer-Schwesinger, Catherine, Iaccarino, Guido, Tøndel, Camilla, Marti, Hans-Peter, Najafian, Behzad, Puelles, Victor G, Schell, Christoph, Huber, Tobias B
Published in The Journal of clinical investigation (01.06.2023)
Published in The Journal of clinical investigation (01.06.2023)
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Journal Article
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
Muschol, Nicole, Koehn, Anja, von Cossel, Katharina, Okur, Ilyas, Ezgu, Fatih, Harmatz, Paul, de Castro Lopez, Maria J, Couce, Maria Luz, Lin, Shuan-Pei, Batzios, Spyros, Cleary, Maureen, Solano, Martha, Nestrasil, Igor, Kaufman, Brian, Shaywitz, Adam J, Maricich, Stephen M, Kuca, Bernice, Kovalchin, Joseph, Zanelli, Eric
Published in The Journal of clinical investigation (15.01.2023)
Published in The Journal of clinical investigation (15.01.2023)
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Journal Article
Treatment of Fabry Disease management with migalastat—outcome from a prospective 24 months observational multicenter study (FAMOUS)
Lenders, Malte, Nordbeck, Peter, Kurschat, Christine, Eveslage, Maria, Karabul, Nesrin, Kaufeld, Jessica, Hennermann, Julia B, Patten, Monica, Cybulla, Markus, Müntze, Jonas, Üçeyler, Nurcan, Liu, Dan, Das, Anibh M, Sommer, Claudia, Pogoda, Christian, Reiermann, Stefanie, Duning, Thomas, Gaedeke, Jens, von Cossel, Katharina, Blaschke, Daniela, Brand, Stefan-Martin, Mann, W Alexander, Kampmann, Christoph, Muschol, Nicole, Canaan-Kühl, Sima, Brand, Eva
Published in European heart journal. Cardiovascular pharmacotherapy (01.05.2022)
Published in European heart journal. Cardiovascular pharmacotherapy (01.05.2022)
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Journal Article
Hip pathologies in mucopolysaccharidosis type III
Breyer, Sandra Rafaela, Vettorazzi, Eik, Schmitz, Leonie, Gulati, Amit, von Cossel, Katharina Maria, Spiro, Alexander, Rupprecht, Martin, Stuecker, Ralf, Muschol, Nicole Maria
Published in Journal of orthopaedic surgery and research (19.03.2021)
Published in Journal of orthopaedic surgery and research (19.03.2021)
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Journal Article
Synuclein Alpha Accumulation Drives Lysosomal Dysfunction in Fabry Podocytopathy: PO1339
Braun, Fabian, Abed, Ahmed, Woidy, Mathias, Eikrem, Oystein, Wanner, Nicola, von Cossel, Katharina M., Gersting, Soeren W., Muntau, Ania C., Najafian, Behzad, Tøndel, Camilla, Mauer, Michael, Grahammer, Florian, Eierhoff, Thorsten, Marti, Hans-Peter, Puelles, Victor G., Schell, Christoph, Huber, Tobias B.
Published in Journal of the American Society of Nephrology (01.10.2021)
Published in Journal of the American Society of Nephrology (01.10.2021)
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Journal Article
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun, Fabian, Abed, Ahmed, Sellung, Dominik, Rogg, Manuel, Woidy, Mathias, Eikrem, Oysten, Wanner, Nicola, Gambardella, Jessica, Laufer, Sandra D, Haas, Fabian, Wong, Milagros N, Dumoulin, Bernhard, Rischke, Paula, Mühlig, Anne, Sachs, Wiebke, Cossel, Katharina Von, Schulz, Kristina, Muschol, Nicole, Gersting, Sören W, Muntau, Ania C, Kretz, Oliver, Hahn, Oliver, Rinschen, Markus M, Mauer, Michael, Bork, Tillmann, Grahammer, Florian, Liang, Wei, Eierhoff, Thorsten, Römer, Winfried, Hansen, Arne, Meyer-Schwesinger, Catherine, Iaccarino, Guido, Tøndel, Camilla, Marti, HANS-PETER, Najafian, Behzad, Puelles, Victor G, Schell, Christoph, Huber, Tobias B
Published in The Journal of clinical investigation (01.06.2023)
Published in The Journal of clinical investigation (01.06.2023)
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Journal Article
Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B
Muschol, Nicole, von Cossel, Katharina, Okur, Ilyas, Ezgu, Fatih, de Castro Lopez, Maria, Couce, Maria Luz, Harmatz, Paul, Batzios, Spyros, Cleary, Maureen, Solano, Martha, Lin, Shaun-Pei, Giugliani, Roberto, Amartino, Hernan, Peters, Heidi, Lee, Joy, Kovalchin, Joseph, Zanelli, Eric, Maricich, Stephen
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)
Lenders, Malte, Nordbeck, Peter, Kurschat, Christine, Eveslage, Maria, Karabul, Nesrin, Kaufeld, Jessica, Hennermann, Julia B, Patten, Monica, Cybulla, Markus, Müntze, Jonas, Üçeyler, Nurcan, Liu, Dan, Das, Anibh M, Sommer, Claudia, Pogoda, Christian, Reiermann, Stefanie, Duning, Thomas, Gaedeke, Jens, von Cossel, Katharina, Blaschke, Daniela, Brand, Stefan-Martin, Alexander Mann, W, Kampmann, Christoph, Muschol, Nicole, Canaan-Kühl, Sima, Brand, Eva
Published in European heart journal. Cardiovascular pharmacotherapy (16.03.2021)
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Published in European heart journal. Cardiovascular pharmacotherapy (16.03.2021)
Journal Article
Synuclein alpha accumulation mediates podocyte injury in Fabry nephropathy
Abed, Ahmed, Braun, Fabian, Sellung, Dominik, Woidy, Mathias, Oystein Solberg Eikrem, Wanner, Nicola, Von Cossel, Katharina Maria, Muschol, Nicole, Gersting, Soeren W, Muntau, Ania Carolina, Kretz, Oliver, Najafian, Behzad, Tondel, Camilla, Mauer, Michael, Bork, Tillmann, Grahammer, Florian, Liang, Wei, Roemer, Winfried, Eierhoff, Thorsten, Hans-Peter, Marti, Puelles, Victor G, Schell, Christoph, Huber, Tobias B
Published in bioRxiv (18.12.2021)
Published in bioRxiv (18.12.2021)
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